An Exploratory Study Using Electronic Medical Records to Assess the Feasibility of Establishing Cohorts of Patients with Genetic Causes of Parkinson's Disease

Susan J. Lee, Peter M. Shaw, Bob Thornton, Amit Kumar, Michal Eizik, Dan Goldstaub, Tali Braun, Gally Teper, Jennifer K. Pai, Gabriel Chodick, Karina Bienfait, Diane Levitan, Daniella Beller, K. Chris Min, Daniel Jonathan, Tiffini Voss, Caroline S. Fox, S. Aubrey Stoch, Arie F. Struyk, Gabriel Vainstein

Research output: Contribution to journalArticlepeer-review

Abstract

Background: More efficient screening methods are needed to improve the ability to identify and follow genetic cohorts in Parkinson's disease (PD). Objective: To explore the use of the electronic medical records (EMRs) to identify participants with PD. Methods: Using an algorithm previously developed in collaboration with Maccabi Healthcare Services (MHS), approximately 5,200 participants with PD were identified, more than 3,200 were screened, and 837 participants were enrolled and genotyped for leucine-rich repeat kinase 2 (LRRK2) and beta-glucocerebrosidase (GBA) variants. Questionnaires were completed to ascertain Ashkenazi Jewish (AJ) ancestry and family history of PD. Results: Among 837 participants with PD, 82% were 65 years and older and 72% had a family history of AJ ancestry. Among those with AJ ancestry, 15.6% reported having relatives with PD. The frequency of observed mutations for LRRK2 and GBA genes combined was approximately 15.4%. The frequency of observed LRRK2 mutation was 6.1% overall and 7.2% from those with AJ ancestry; and for GBA mutation was 9.3% overall and 11.2% from those with AJ ancestry. Conclusion: Although the frequency of observed mutations in this study was lower than anticipated, mutation carriers were enriched among those with a family history of AJ ancestry increasing nearly 2-3-fold, from 3% -7% (LRRK2) and 4% -11% (GBA). The identification (and selection) of PD patients through EMRs prior to genotyping is a viable approach, to establish a genetically defined cohort of patients with PD for clinical research.

Original languageEnglish
Pages (from-to)1645-1653
Number of pages9
JournalJournal of Parkinson's Disease
Volume12
Issue number5
DOIs
StatePublished - 2022
Externally publishedYes

Keywords

  • Parkinson mutations
  • Parkinson's disease
  • genetic testing
  • glucocerebrosidase

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